What is Cystic Fibrosis?
It’s a lung issue, right? Yep, that’s all we knew about it when our kids were diagnosed, too.
CF is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride -- a component of salt -- to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF. In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.
Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person.
CF By the Numbers
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More than 30,000 Americans are living with CF (more than 70,000 worldwide).
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Approximately 1,000 new cases of CF are diagnosed each year.
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1 in 31 Americans are symptomless carriers of the defective CF gene.
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Median predicted age is into the 40s.
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Many people living with CF require a lung transplant in their 30s.
Is There a Cure?
Not yet. But that’s where you come in!
Although there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short. There have been tremendous advancements in CF care over the last decade and even in the last three years since our kids were born. Gene therapy has had success curing other serious diseases and has the potential to do so for CF.
The Cystic Fibrosis Foundation has outlined a Path to a Cure with the ultimate goal of guiding research to develop a successful method of gene therapy (editing or transfer). It’s a long road, but the world’s top CF researchers continue to believe a cure is possible in the next 20 years. As parents of toddlers living with CF we are going to do everything we can to assist and encourage them! Thank you for learning about and contributing to this effort.
With our deepest gratitude and love,
Brianna (Ellevold) and Shawn Doyle
Christy (Wells) and Dustin Lee